Familial Mediterranean Fever (FMF) is a rare, inherited autoinflammatory disorder characterized by recurring episodes of inflammation. The condition primarily affects individuals of Mediterranean descent, particularly those of Jewish, Arab, Armenian, and Turkish ancestry.
FMF typically manifests during childhood but can also arise in adulthood. The condition is caused by mutations in the Mediterranean fever gene (MEFV), resulting in abnormal production of a protein called pyrin. Pyrin plays a crucial role in regulating inflammation and protecting the body against infections. However, in individuals with FMF, the malfunctioning pyrin protein leads to episodes of intense inflammation even in the absence of infection or injury.
Symptoms of FMF vary but commonly include recurrent episodes of fever accompanied by serositis, which is the inflammation of the lining of organs such as the abdomen, chest, and joints. These episodes typically last between 12 and 72 hours and may be accompanied by severe abdominal pain, chest pain, joint pain, and swelling.
The exact triggers for FMF episodes are not well understood, but they can be influenced by various factors such as stress, physical exertion, infections, and hormonal changes. If left untreated or poorly managed, FMF can lead to complications such as amyloidosis, a condition where abnormal proteins build up in organs and tissues, potentially causing organ damage.
Treatment for FMF focuses on managing symptoms and reducing the frequency and severity of episodes. This often involves the use of nonsteroidal anti-inflammatory drugs (NSAIDs) and, in some cases, a medication called colchicine to prevent future attacks. In severe cases or for those who do not respond to colchicine, other medications may be considered to suppress inflammation. Genetic counseling is also recommended for affected individuals and their families to discuss inheritance patterns
